Aceruloplasminemia (Aceruloplasminemia) is a disorder in which iron gradually accumulates in the brain and other organs.. Iron accumulation in the brain causes neurological problems, and these problems usually appear in adulthood and worsen over time.. Do this.

So, stay with the GCORP LLC blog to tell you what acroloplasminemia is and what its symptoms are.

What is acroloplasminemia?

Acroloplasminemia or Aceruloplasminemia is a rare congenital disorder that causes accumulation of iron in various body organs. This disease is inherited in an autosomal recessive manner and its symptoms appear mostly in adulthood. This means that both versions of the gene in each cell do not show specific symptoms, but have mutations. different family be.

People with acroloplasminemia are more at risk of developing anemia and diabetes in their 20s. Anemia is mainly caused by excessive accumulation of iron in the organs and a simultaneous lack of iron in the blood. In addition, the damage caused by iron to the beta cells in the pancreas, as well as some people lead to abnormal secretion disorders as well as mental disorders in the saliva.. In their 40s and 50s..

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As mentioned, acroloplasminemia is a very rare disorder that affects men and women equally.. It is seen worldwide, but its overall prevalence is unknown.. Studies in Japan have estimated that approximately 1 in 2 million adults have it.. Because many cases of acroloplasminemia are undiagnosed or misdiagnosed, it is difficult to determine the true prevalence of the disorder in the general population.. The name of this disease was mentioned for the first time in the medical literature in 1992.

What are the signs and symptoms of acroloplasminemia?

Symptoms and severity of acroloplasminemia vary from person to person, even among members of the same family.. The age of onset is also different and varies between 20 and 60 years old.. Therefore, the same conditions cannot be considered for each person..

1. Anemia

Some people with acroloplasminemia develop mild anemia (low levels of red blood cells), which can cause fatigue, weakness, shortness of breath, and pale skin. Anemia often precedes other symptoms usually associated with acroloplasminemia.

2. Retinal degeneration

Many people develop progressive retinal degeneration....Retinas are thin layers of nerve cells that line the inner surface of the eyes....Retinas sense light and convert it into nerve signals that are then transmitted to the brain via the optic nerve....Damage to retinal tissue can be caused by iron deposits or associated with diabetes as part of acroplasmia. Can..

Actually, people Sufferers experience changes in the light-sensitive tissue at the back of the eye (retina) caused by excess iron. These changes lead to small opaque spots and areas of tissue loss (atrophy) around the edges of the retina. These abnormalities usually do not affect vision, but can be seen during an eye exam.

3. Neurological symptoms

Various neurological symptoms in people with acroloplasminemia can occur due to the accumulation of iron in the brain... Specific symptoms may vary, but often include movement disorders, inability to coordinate voluntary movements (ataxia), slurred speech or difficulty speaking (bloody diarrhea), behavioral changes, and anatomical cognitive impairments..

• Movement disorders: Movement disorders associated with acroloplasminemia include tremors, dancer's disease (rapid, involuntary, jerky movements), and dystonia, which refers to a group of muscle disorders generally characterized by involuntary muscle contractions that force the body to perform abnormal and sometimes painful movements. Blepharospasm is a condition characterized by involuntary muscle spasm and contraction of the muscles around the eyes.
• Parkinson's: Some affected people may have symptoms similar to those of Parkinson's disease. These symptoms include tremors, abnormal slowness of movement, and inability to maintain a steady or balanced posture.
• Depression: Some people with acroloplasminemia develop cognitive impairment that can progress to dementia. Behavioral or emotional changes (such as depression) may also occur.

4. Diabetes

Accumulation of iron in people with acroloplasminemia can also occur in the pancreas.. The pancreas is a small organ located behind the stomach that secretes enzymes that go to the intestines and help digest food.. That's right.

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When should we see a doctor?

If you see any of the mentioned symptoms, be sure to see a doctor.... It is better to look for doctors or other specialists who have enough knowledge to diagnose this disease.... If you cannot find a specialist in your area, look for a doctor in another city.... because this rare and dangerous disease must be managed at the right time so that the patient can continue his life more easily.

Conclusion

The average life expectancy of people with aceruloplasminemia varies, but due to improvements in medical care, people with it now live well into late adulthood.... As a result, if you see a doctor at the right time, it will help you cope better.... If you are looking for an appointment and online consultation, contact GCORP LLC Doctors